UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1460

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Proline (P) at position 1460 (L1460P, p.Leu1460Pro).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In FCORD2; somatic mutation; increased TOR signaling.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1057519779 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1460

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

2549

The length of the canonical sequence.

Location on the sequence:

FGELEIQATWYEKLHEWEDA L VAYDKKMDTNKDDPELMLGR

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         FGELEIQATWYEKLHEWEDALVAYDKKMDTNKDDPELMLGR

Mouse                         FGELEIQATWYEKLHEWEDALVAYDKKMDTNKEDPELMLGR

Rat                           FGELEIQATWYEKLHEWEDALVAYDKKMDTNKDDPELMLGR

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 2549	Serine/threonine-protein kinase mTOR
Domain	1382 – 1982	FAT
Repeat	1443 – 1473	TPR 4
Helix	1456 – 1467

Literature citations

Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb.
Nakashima M.; Saitsu H.; Takei N.; Tohyama J.; Kato M.; Kitaura H.; Shiina M.; Shirozu H.; Masuda H.; Watanabe K.; Ohba C.; Tsurusaki Y.; Miyake N.; Zheng Y.; Sato T.; Takebayashi H.; Ogata K.; Kameyama S.; Kakita A.; Matsumoto N.;
Ann. Neurol. 78:375-386(2015)
Cited for: FUNCTION; INVOLVEMENT IN FCORD2; VARIANTS FCORD2 ASP-1459; PRO-1460; PHE-2215 AND TYR-2215; CHARACTERIZATION OF VARIANTS FCORD2 ASP-1459; PRO-1460; PHE-2215 AND TYR-2215;

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Moeller R.S.; Weckhuysen S.; Chipaux M.; Marsan E.; Taly V.; Bebin E.M.; Hiatt S.M.; Prokop J.W.; Bowling K.M.; Mei D.; Conti V.; de la Grange P.; Ferrand-Sorbets S.; Dorfmueller G.; Lambrecq V.; Larsen L.H.; Leguern E.; Guerrini R.; Rubboli G.; Cooper G.M.; Baulac S.;
Neurol. Genet. 2:E118-E118(2016)
Cited for: INVOLVEMENT IN FCORD2; VARIANTS GLU-1376 AND VAL-2501; VARIANTS FCORD2 SER-1459; PRO-1460; PHE-2215 AND TYR-2215; VARIANTS SKS ARG-1490; ILE-1595; THR-1832; CYS-1888 AND ILE-2327;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42345: Variant p.Leu1460Pro